Omenn syndrome

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).



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Narrow down the case reports



Total: 52 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(46.0%)		 15964782
 Omenn's syndrome occurring in patients without mutations in recombination activating genes.
Gennery AR, Hodges E, Williams AP, Harris S, Villa A, Angus B, Cant AJ, Smith JL.
Clin Immunol. 2005;116(3):246-56.
Hepatosplenomegaly Eosinophilia Erythema Oligoclonal T cell expansion
IGH TRBC1
Base Sequence DNA DNA-Binding Proteins Females Gene Rearrangement, B-Lymphocyte, Heavy Chain Gene Rearrangement, beta-Chain T-Cell Antigen Rece... Gene Rearrangement, gamma-Chain T-Cell Antigen Rec... Genotype Homeodomain Proteins Homo sapiens Immunophenotyping Infant Infant, Newborn Male Mutation Nuclear Proteins Severe Combined Immunodeficiency Syndrome
2
(38.0%)		 25727345
 Cyclosporin treatment improves skin findings in omenn syndrome.
Caglayan Sozmen S, Isik S, Arikan Ayyildiz Z, Yildiz K, Cakr Y, Ozer E, Asilsoy S, Uzuner N, Karaman O, Anal O.
Pediatr Dermatol. 2015;32(2):e54-7.
Skin rash Hepatosplenomegaly Eosinophilia
CD19 CD4 CD8A RAG1
Administration, Oral Disease Progression Dose-Response Relationship, Drug Drug Administration Schedule Fatal Outcome Females Health Risk Assessment Homo sapiens Infant Multiple Organ Failure Sepsis Severe Combined Immunodeficiency Severity of Illness Index
2
(38.0%)		 22882342
 From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family.
Martinez-Martinez L, Vazquez-Ortiz M, Gonzalez-Santesteban C, Martin-Nalda A, Vicente A, Plaza AM, Badell I, Alsina L, de la Calle-Martin O.
Pediatr Allergy Immunol. 2012;23(7):660-6.
Erythroderma Hepatosplenomegaly Eosinophilia
RAG1
c|DEL|631|T
Chimerism DNA Mutational Analysis Eczema Enteritis Fatal Outcome Homeodomain Proteins Homo sapiens Infant, Newborn Male Morocco Severe Combined Immunodeficiency
2
(38.0%)		 21771083
 Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.
Zhang ZY, Zhao XD, Jiang LP, Liu EM, Cui YX, Wang M, Wei H, Yu J, An YF, Yang XQ.
Pediatr Allergy Immunol. 2011;22(5):482-7.
Hepatosplenomegaly Eosinophilia
RAG1 RAG2
c|DEL|2302|T c|SUB|C|2219|T c|SUB|C|2444|T c|SUB|G|1983|A g|SUB|C|3127|G p|SUB|I|729|X p|SUB|R|699|W;RS#:199474676 p|SUB|Y|1001|X rs199474676
Asians DNA Mutational Analysis DNA-Binding Proteins Fatal Outcome Genotype Heterozygote Homeodomain Proteins Homo sapiens Homozygote Infant Infant, Newborn Male Mutation Nuclear Proteins Phenotype Severe Combined Immunodeficiency alpha-beta T-Cell Receptor
2
(38.0%)		 17337397
 Omenn syndrome: a rare case of neonatal erythroderma.
Puzenat E, Rohrlich P, Thierry P, Girardin P, Taghian M, Ouachee M, Plouvier E, Fischer A, Humbert P, Aubin F.
Eur J Dermatol. 2007;17(2):137-9.
Erythroderma Hepatosplenomegaly Neutropenia
RAG1
Bone Marrow Transplantation Child, Preschool Differential Diagnosis Homo sapiens Male Severe Combined Immunodeficiency
2
(38.0%)		 17176792
 Necrotizing enterocolitis in an infant with Omenn syndrome.
Lynch MK, Jones CH, Gaye A, Manteuffel KK.
Allergy Asthma Proc. 2006;27(6):537-43.
Hepatosplenomegaly Hypereosinophilia
RAG1 RAG2
rs104894289
Fatal Outcome Females Homo sapiens Infant, Newborn Necrotizing Enterocolitis Pneumatosis Cystoides Intestinalis Severe Combined Immunodeficiency
2
(38.0%)		 16088419
 Cardiac thrombus in Omenn syndrome.
Kilic SS, Cil E, Meral A, Villa A.
Pediatr Cardiol. 2005;26(5):694-7.
Skin rash Hepatosplenomegaly Eosinophilia
IGHE
Echocardiography Females Heart Diseases Heart Ventricle Homo sapiens Infant Severe Combined Immunodeficiency Thrombosis
2
(38.0%)		 2985012
 [Severe combined immune deficiency with hypereosinophilia. Immunologic study of 5 cases].
Le Deist F, Fischer A, Durandy A, Arnaud-Battandier F, Nezelof C, Hamet M, de Prost Y, Griscelli C.
Arch Fr Pediatr. 1985;42(1):11-6.
Erythroderma Hepatosplenomegaly Eosinophilia
NT5E
Antibody Formation Cellular Immunity Eosinophilia Females Homo sapiens Immunologic Deficiency Syndromes Infant Infant, Newborn Infantile Diarrhea Lymphatic Diseases Lymphocyte Male Nucleotidases
9
(32.8%)		 22978387
 Clinical and immunophenotypic features of atypical complete DiGeorge syndrome.
Vu QV, Wada T, Toma T, Tajima H, Maeda M, Tanaka R, Oh-Ishi T, Yachie A.
Pediatr Int. 2013;55(1):2-6.
Eosinophilia Lymphadenopathy Oligoclonal T cell expansion
TRBV20OR9-2
Biological Markers DiGeorge Syndrome Flow Cytometry Homo sapiens Infant, Newborn Male T-Lymphocyte alpha-beta T-Cell Receptor
10
(32.0%)		 24759676
 Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias.
Zago CA, Jacob CM, de Albuquerque Diniz EM, Lovisolo SM, Zerbini MC, Dorna M, Watanabe L, Fernandes JF, Rocha V, Oliveira JB, Carneiro-Sampaio M.
Hum Immunol. 2014;75(7):662-6.
Purpura
IL7R
p|FS|I|121|N|8;RS#:781000678 p|SUB|C|118|Y;RS#:193922641
Base Sequence Cord Blood Stem Cell Transplantation Females Heterozygote Homo sapiens Homozygote Infant Infant, Newborn Interleukin 7 Receptor Molecular Sequence Data Mutation Purpura, Thrombotic Thrombocytopenic Severe Combined Immunodeficiency
        

Phenotype(s) retrieved from Orphanet

    Total: 28

HPO ID Term Frequency
HP:0001019 Erythroderma Very frequent (99-80%)
HP:0001508 Failure to thrive Very frequent (99-80%)
HP:0001596 Alopecia Very frequent (99-80%)
HP:0002028 Chronic diarrhea Very frequent (99-80%)
HP:0002240 Hepatomegaly Very frequent (99-80%)
HP:0002716 Lymphadenopathy Very frequent (99-80%)
HP:0004332 Abnormal lymphocyte morphology Very frequent (99-80%)
HP:0004430 Severe combined immunodeficiency Very frequent (99-80%)
HP:0000958 Dry skin Frequent (79-30%)
HP:0000969 Edema Frequent (79-30%)
HP:0000989 Pruritus Frequent (79-30%)
HP:0001072 Thickened skin Frequent (79-30%)
HP:0001744 Splenomegaly Frequent (79-30%)
HP:0001880 Eosinophilia Frequent (79-30%)
HP:0001945 Fever Frequent (79-30%)
HP:0001974 Leukocytosis Frequent (79-30%)
HP:0002090 Pneumonia Frequent (79-30%)
HP:0007549 Desquamation of skin soon after birth Frequent (79-30%)
HP:0100840 Aplasia/Hypoplasia of the eyebrow Frequent (79-30%)
HP:0000100 Nephrotic syndrome Occasional (29-5%)
HP:0000821 Hypothyroidism Occasional (29-5%)
HP:0000944 Abnormality of the metaphysis Occasional (29-5%)
HP:0001831 Short toe Occasional (29-5%)
HP:0001903 Anemia Occasional (29-5%)
HP:0002665 Lymphoma Occasional (29-5%)
HP:0002960 Autoimmunity Occasional (29-5%)
HP:0100646 Thyroiditis Occasional (29-5%)
HP:0100806 Sepsis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 21

HPO ID Term # of case reports
HP:0001880 Eosinophilia 12
HP:0001019 Erythroderma 9
HP:0001433 Hepatosplenomegaly 7
HP:0002721 Immunodeficiency 6
HP:0002716 Lymphadenopathy 5
HP:0002960 Autoimmunity 3
HP:0005387 Combined immunodeficiency 3
HP:0032252 Granuloma 3
HP:0000988 Skin rash 2
HP:0001508 Failure to thrive 2
HP:0002719 Recurrent infections 2
HP:0000979 Purpura 1
HP:0001047 Atopic dermatitis 1
HP:0001638 Cardiomyopathy 1
HP:0001888 Lymphopenia 1
HP:0005363 Humoral immunodeficiency 1
HP:0010783 Erythema 1
HP:0031430 Oligoclonal T cell expansion 1
HP:0032061 Hypereosinophilia 1
HP:0100806 Sepsis 1
HP:0100827 Lymphocytosis 1


Causative gene(s) retrieved from Orphanet

    Total: 9

Gene Symbol Gene Name Entrez Gene ID
ADA adenosine deaminase 100
RAG1 recombination activating 1 5896
RAG2 recombination activating 2 5897
CHD7 chromodomain helicase DNA binding protein 7 55636
DCLRE1C DNA cross-link repair 1C 64421
IL2RG interleukin 2 receptor subunit gamma 3561
LIG4 DNA ligase 4 3981
RMRP RNA component of mitochondrial RNA processing endoribonuclease 6023
IL7R interleukin 7 receptor 3575